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3.
Dr Samina Shakeel
Comparison of Treatment Plans against
Nov
NORI, Islamabad
HCV genotype 3
2011
Research Publications:
1.
N. Wasif, S. Basit, G. Ali, N. Ali, M. Ansar, W. Ahmad (2011) A novel splice site mutation in the keratin-74 (KRT74) gene
underlies autosomal dominant woolly hair in a Pakistani family. Human Genetics 129:419-424
2.
S Basit, A Wali, A Aziz, N Muhammad, M Jelani, W Ahmad (2011) Digenic inheritance of an autosomal recessive
hypotrichosis in two consanguineous pedigrees. Clinical Genetics 79:273-281
3.
Musharraf Jelani, Muhammad Salman Chishti, Wasim Ahmad (2011) Mutation in PVRL4 Gene Encoding nectin-4
Underlies Ectodermal-Dysplasia-Syndactyly-Syndrome (EDSS1). Journal of Human Genetics 56: 352-357
4.
RabiaHabib, SulmanBasit, Saadullah Khan, Muhammad Nasim Khan, Wasim Ahmad (2011) A Novel Splice Site
Mutation in GeneC2orf37Underlying Woodhouse–Sakati Syndrome (WSS) in a Consanguineous Family of Pakistani
Origin. Gene 490: 26-31
5.
SulmanBasit, ZafarIqbal, Masha Umicevic-Mirkov, Syed Kamran Ul-Hassan Naqvi, MariekeCoenen, Muhammad
Ansar, Hans van Bokhoven,Wasim Ahmad (2011) A Novel Deletion Mutation in Proteoglycan-4
UnderliesCamptodactyly-arthropathy-coxa-vara-pericarditis (CACP) Syndrome in a Consanguineous Pakistani
Family.Archives of Medical Research 42:110-114
6.
ZahidAzeem, NaveedWasif, SulmanBasit, SuhailRazak, Raja AmjadWaheed Khan, Adeel Islam, Muhammad Ayub,
Kafaitullah, Syed Kamran-ul-Hassan Naqvi, Ghazanfar Ali, Wasim Ahmad (2011) Congenital atrichia with papular
lesions resulting from novel mutations in human hairless gene in four consanguineous families. Journal of
Dermatology 38:755-760
7.
SK Naqvi, N Wasif, H Javaid, W Ahmad (2011) Two novel mutations in the gene EDAR causing autosomal recessive
hypohidrotic ectodermal dysplasia. Orthodontics and Craniofacial Research 14:156-159
8.
S. Khan, R. Habib, H. Mir, Umm-e-Kalsoom, G. Naz, M. Ayub, S. Shafique, T. Yamin, N. Ali, S. Basit, N. Wasif, S. Kamran-
ul-Hassan Naqvi, G. Ali, A. Wali, M. Ansar, W. Ahmad (2011) Mutations in LPAR6and LIPH genes underlie autosomal
recessive hypotrichosis/woolly hair in seventeen consanguineous families. Clinical and Experimental Dermatology
36:652-654
9.
Musharraf Jelani, Muhammad Tariq, Iftikhar Ahmad Jan, HazratUllah, Muhammad Naeem, Wasim Ahmad (2011)
Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32. Journal of Dermatological
Science 61:134-136
10.
Basit S, Lee K, Habib R, Chen L, e-Kalsoom U, Santos-Cortez RLP, Azeem Z, Andrade P, Ansar M, Ahmad W, Leal SM
(2011) DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2
Human Genetics 129:379-85
11.
Bibi N, Ahmad S, Ahmad W, Naeem M (2011) Molecular genetic analysis of consanguineous Pakistani families with
autosomal recessive hypohydrotic ectodermal dysplasia. Australasian Journal of Dermatology 52:37-42
12.
Kousar R,Hassan MJ,Khan B,Basit S,Mahmood S,Ahmad W,Ansar M (2011) Mutations in WDR62 gene in Pakistani
families with autosomal recessive primarymicrocephaly. BMCNeurology 11:119
13.
Ahmed SM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Thusnain T, Rehman AU, Bonneux S, Ansar M, AhmadW, Leal SM,
Gladyshev VN, Belyantseva IA, Camp G, Riazuddin S, Friedman TB, Riazuddin S (2011) Functional Null Mutations of
MSRB3 Encoding Methionine SulfoxideReductase are Associated with Human Deafness DFNB74. American Journal
of Human Genetics 88:19-29
14.
Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RLP , Chen L, Jelani M, Ansar M, Ahmad W, Leal SM (2011) Novel
autosomal recessive non-syndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3 Human Heredity
Annual Report
2011
228